Incidental Mutation 'R7494:Dpp9'
| ID |
581013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp9
|
| Ensembl Gene |
ENSMUSG00000001229 |
| Gene Name |
dipeptidylpeptidase 9 |
| Synonyms |
DPRP2, 6430584G11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56493807-56525905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56507619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 350
(Y350C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038794]
|
| AlphaFold |
Q8BVG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038794
AA Change: Y350C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046604
Gene: ENSMUSG00000001229
AA Change: Y350C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
|
Pfam:DPPIV_N
|
145 |
569 |
5.2e-109 |
PFAM |
|
Pfam:Peptidase_S15
|
617 |
793 |
2.8e-10 |
PFAM |
|
Pfam:Peptidase_S9
|
657 |
862 |
2.5e-57 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants display partial neonatal lethality and complete lethality at preweaning stages with defects suckling due to undeveveloped tongue muscle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
A |
11: 110,099,571 (GRCm39) |
T992I |
possibly damaging |
Het |
| Adamts10 |
T |
A |
17: 33,768,352 (GRCm39) |
C841* |
probably null |
Het |
| AI661453 |
C |
T |
17: 47,779,105 (GRCm39) |
P944S |
unknown |
Het |
| Als2 |
G |
A |
1: 59,222,325 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
A |
G |
2: 25,166,376 (GRCm39) |
E381G |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,824,756 (GRCm39) |
Y1142H |
|
Het |
| Apip |
A |
T |
2: 102,922,896 (GRCm39) |
N238I |
probably benign |
Het |
| Cblc |
A |
T |
7: 19,526,737 (GRCm39) |
V165D |
possibly damaging |
Het |
| Cep295nl |
T |
A |
11: 118,224,758 (GRCm39) |
M29L |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,330,362 (GRCm39) |
I47V |
possibly damaging |
Het |
| Enpp2 |
C |
T |
15: 54,773,554 (GRCm39) |
G56R |
probably damaging |
Het |
| Epsti1 |
G |
T |
14: 78,166,194 (GRCm39) |
E82D |
probably benign |
Het |
| Eri2 |
C |
A |
7: 119,385,304 (GRCm39) |
C399F |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,298,361 (GRCm39) |
T672A |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,138,388 (GRCm39) |
C445S |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,368,907 (GRCm39) |
T740K |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,262 (GRCm39) |
Y134H |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,262,684 (GRCm39) |
S874P |
probably damaging |
Het |
| Gm2431 |
G |
A |
7: 141,811,547 (GRCm39) |
P119L |
unknown |
Het |
| Gzmc |
G |
A |
14: 56,469,785 (GRCm39) |
Q172* |
probably null |
Het |
| Hoxa1 |
C |
A |
6: 52,134,571 (GRCm39) |
V211F |
probably damaging |
Het |
| Hyou1 |
G |
T |
9: 44,300,706 (GRCm39) |
R925L |
probably benign |
Het |
| Ift70a1 |
A |
C |
2: 75,810,242 (GRCm39) |
F614V |
probably damaging |
Het |
| Ilvbl |
A |
G |
10: 78,414,857 (GRCm39) |
Y240C |
possibly damaging |
Het |
| Lama1 |
T |
A |
17: 68,118,441 (GRCm39) |
F2551Y |
|
Het |
| Lrrtm3 |
A |
G |
10: 63,924,958 (GRCm39) |
Y70H |
probably damaging |
Het |
| Naa38 |
T |
A |
11: 69,287,126 (GRCm39) |
C69S |
probably damaging |
Het |
| Or12e7 |
T |
A |
2: 87,287,912 (GRCm39) |
N134K |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,038 (GRCm39) |
S123P |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,592 (GRCm39) |
I268N |
probably benign |
Het |
| Panx3 |
A |
G |
9: 37,572,608 (GRCm39) |
L314P |
probably damaging |
Het |
| Polr2f |
T |
C |
15: 79,028,865 (GRCm39) |
|
probably null |
Het |
| Prkcd |
C |
A |
14: 30,331,150 (GRCm39) |
R75L |
probably benign |
Het |
| Psap |
A |
C |
10: 60,135,275 (GRCm39) |
L313F |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,775,017 (GRCm39) |
C263S |
probably benign |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Pura |
T |
A |
18: 36,420,942 (GRCm39) |
M243K |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
| Septin1 |
T |
A |
7: 126,814,122 (GRCm39) |
E338V |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,107,091 (GRCm39) |
F255L |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,637,862 (GRCm39) |
T353A |
possibly damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,449 (GRCm39) |
V240A |
probably benign |
Het |
| Sntg2 |
T |
G |
12: 30,279,633 (GRCm39) |
D340A |
possibly damaging |
Het |
| Sun1 |
C |
T |
5: 139,221,475 (GRCm39) |
P553S |
probably benign |
Het |
| Tas2r140 |
T |
C |
6: 40,468,254 (GRCm39) |
V28A |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,592,686 (GRCm39) |
F323S |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,284 (GRCm39) |
Y269H |
possibly damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,832,586 (GRCm39) |
T90I |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,720,321 (GRCm39) |
Y6968* |
probably null |
Het |
| Vmn2r44 |
A |
T |
7: 8,386,122 (GRCm39) |
L39* |
probably null |
Het |
|
| Other mutations in Dpp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Dpp9
|
APN |
17 |
56,512,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00920:Dpp9
|
APN |
17 |
56,507,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01568:Dpp9
|
APN |
17 |
56,498,159 (GRCm39) |
missense |
probably benign |
|
|
IGL01583:Dpp9
|
APN |
17 |
56,518,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01613:Dpp9
|
APN |
17 |
56,497,713 (GRCm39) |
missense |
probably benign |
|
|
IGL03371:Dpp9
|
APN |
17 |
56,494,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0100:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0100:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0418:Dpp9
|
UTSW |
17 |
56,501,404 (GRCm39) |
splice site |
probably benign |
|
|
R1163:Dpp9
|
UTSW |
17 |
56,506,426 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1680:Dpp9
|
UTSW |
17 |
56,497,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1709:Dpp9
|
UTSW |
17 |
56,501,431 (GRCm39) |
missense |
probably benign |
|
|
R1762:Dpp9
|
UTSW |
17 |
56,495,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Dpp9
|
UTSW |
17 |
56,506,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Dpp9
|
UTSW |
17 |
56,509,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1854:Dpp9
|
UTSW |
17 |
56,509,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2162:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2205:Dpp9
|
UTSW |
17 |
56,506,287 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2301:Dpp9
|
UTSW |
17 |
56,501,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2520:Dpp9
|
UTSW |
17 |
56,513,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3833:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4364:Dpp9
|
UTSW |
17 |
56,494,391 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4737:Dpp9
|
UTSW |
17 |
56,505,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4740:Dpp9
|
UTSW |
17 |
56,505,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4741:Dpp9
|
UTSW |
17 |
56,512,286 (GRCm39) |
missense |
probably benign |
|
|
R4798:Dpp9
|
UTSW |
17 |
56,498,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4806:Dpp9
|
UTSW |
17 |
56,497,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Dpp9
|
UTSW |
17 |
56,496,424 (GRCm39) |
nonsense |
probably null |
|
|
R5709:Dpp9
|
UTSW |
17 |
56,496,393 (GRCm39) |
missense |
probably benign |
|
|
R5783:Dpp9
|
UTSW |
17 |
56,518,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6454:Dpp9
|
UTSW |
17 |
56,513,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6532:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6894:Dpp9
|
UTSW |
17 |
56,495,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Dpp9
|
UTSW |
17 |
56,496,405 (GRCm39) |
nonsense |
probably null |
|
|
R7495:Dpp9
|
UTSW |
17 |
56,502,044 (GRCm39) |
missense |
probably benign |
|
|
R7511:Dpp9
|
UTSW |
17 |
56,512,611 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7556:Dpp9
|
UTSW |
17 |
56,497,012 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8228:Dpp9
|
UTSW |
17 |
56,498,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Dpp9
|
UTSW |
17 |
56,501,467 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8724:Dpp9
|
UTSW |
17 |
56,512,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8798:Dpp9
|
UTSW |
17 |
56,506,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Dpp9
|
UTSW |
17 |
56,512,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Dpp9
|
UTSW |
17 |
56,494,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Dpp9
|
UTSW |
17 |
56,501,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Dpp9
|
UTSW |
17 |
56,502,006 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATCCTGTCTGGGCCTAGTG -3'
(R):5'- AATCCAGTGTGACTTCCACC -3'
Sequencing Primer
(F):5'- TCAGACTGACCTGACCCCTGAG -3'
(R):5'- TGCACCATGTACATGCAGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation